Moya-Alarcón, CarlotaGonzález-Domínguez, AlmudenaSimon, SusanaPérez-Román, InésGonzález-Martín, AntonioBayo-Lozano, EloisaSánchez-Heras, Ana Beatriz2023-01-252023-01-252019-01-08http://hdl.handle.net/10668/13388Germline mutations in BRCA1 and/or BRCA2 genes (gBRCA1/2m) are associated with an increased risk of breast cancer (BC) and ovarian cancer (OC). The aim of this study was to estimate the efficiency of providing germline BRCA1/2 testing to high-grade epithelial ovarian cancer (HGEOC) patients without family history of OC or BC and the subsequent testing and management of their relatives with gBRCA1/2m in Spain. Incident HGEOC patients without family history of OC or BC who were gBRCA1/2m carriers and their relatives were simulated in a 50-year time horizon. The study compared two scenarios: BRCA1/2 testing vs no testing, using the perspective of the Spanish National Health Service. Cancer risk among gBRCA1/2m carriers was estimated based on their age and whether they had undergone risk-reducing surgeries. Direct healthcare costs and utilities of patients who developed EOC and BC were also included. A probabilistic sensitivity analysis (PSA) with 5 thousand simulations was developed considering ± 25% of the base-case value. The BRCA1/2-testing scenario amounted to €13,437,897.43 while the no-testing scenario amounted to €12,053,291.17. It was estimated that the screening test improved the quality of life among the patients' relatives by 43.8 quality-adjusted life years (QALYs). The incremental cost-utility ratio (ICUR) was €31,621.33/QALY in the base case. The PSA showed that 89.12% of the simulations were below the €50,000/QALY threshold. Providing this screening test to HGEOC patients and their relatives is cost-effective and it allows one to identify a target population with high risk of cancer to provide effective prevention strategies.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/BRCA1 geneBRCA2 geneCancer screening testCost–utility analysisOvarian cancerQuality-adjusted life yearsAdultBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCarcinoma, Ovarian EpithelialCost-Benefit AnalysisFemaleFollow-Up StudiesGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHealth Care CostsHumansMiddle AgedNeoplasm GradingPrognosisQuality of LifeQuality-Adjusted Life YearsSpainresearch article30617925open access10.1007/s12094-018-02026-21699-3055https://link.springer.com/content/pdf/10.1007/s12094-018-02026-2.pdf